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  3. PRDM12
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Hereditary Neuropathy_CMT - isolated

Gene: PRDM12

Green List (high evidence)
PRDM12 (PR/SET domain 12)
EnsemblGeneIds (GRCh38): ENSG00000130711
EnsemblGeneIds (GRCh37): ENSG00000130711
OMIM: 616458, Gene2Phenotype
PRDM12 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production.

Well established gene-disease association, more than 10 unrelated families reported.
Created: 11 May 2021, 5:31 a.m. | Last Modified: 11 May 2021, 5:31 a.m.
Panel Version: 0.137

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662

Publications

Created: 11 May 2021, 5:31 a.m.
Last Modified: 11 May 2021, 5:31 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662
  • HSAN/SFN
OMIM
616458
Clinvar variants
Variants in PRDM12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm12 has been classified as Green List (High Evidence).

11 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN

11 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRDM12 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PRDM12 was added gene: PRDM12 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN